Related Experiment Video

Updated: Jul 1, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

CARD15 gene polymorphisms in Serbian patients with Crohn's disease: genotype-phenotype analysis

Marijana B Protic1, Sonja T Pavlovic, Daniela Z Bojic

  • 1Center for Gastroenterology and Hepatology, University Clinical Center, Zvezdara, Belgrade, Serbia. marijanaprotic@beotel.yu

European Journal of Gastroenterology & Hepatology
|September 13, 2008
PubMed

Insights

CARD15 mutations increase Crohn's disease (CD) risk in Serbian populations, particularly the L1007fs variant. These mutations are linked to earlier disease onset, ileal disease, and increased need for surgery.

Area of Science:

  • Genetics
  • Gastroenterology
  • Immunology

Background:

  • Crohn's disease (CD) genetic analysis is complicated by heterogeneity and incomplete penetrance.
  • CARD15 polymorphisms are associated with CD susceptibility in Western Europe, but population-specific frequencies exist.

Purpose of the Study:

  • To determine the prevalence of CARD15 mutations in a Serbian population.
  • To investigate the correlation between CARD15 mutations and CD phenotypes in this population.

Main Methods:

  • Genotyping of 131 CD patients, 65 ulcerative colitis patients, and 88 healthy controls for three common CARD15 mutations (R702W, G908R, Leu1007insC) using PCR-RFLP.
  • Statistical analysis using chi-squared and Student's t-tests.

Main Results:

  • CARD15 mutations were found in 35.11% of CD patients, significantly higher than in healthy controls (14.77%) and ulcerative colitis patients (7.69%).
  • The L1007fs mutation showed a strong association with CD (P<0.0001).
  • CARD15 carriers had increased risk for isolated ileal location (OR 2.30), fibrostenotic behavior (OR 9.86), surgical resection (OR 2.2), and earlier disease onset.

Conclusions:

  • CARD15 mutations, particularly L1007fs, are associated with an increased risk of Crohn's disease in central Europeans.
  • These mutations correlate with earlier onset, ileal and fibrostenotic disease, and a higher likelihood of requiring surgery.
  • No east-west divide in genotype frequency or CD phenotype within Europe was observed, suggesting latitude may not be a primary factor.
Abstract

More Related Videos

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Related Concept Videos

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...